Canonical Allele Identifier: CA2694293705
Gene: TIMM8A HGNC NCBI

Linked Data

gnomAD v4: X-101348469-C-CCCTCTGTCCTTGTA
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348471_101348472insTCTGTCCTTGTACC , CM000685.2:g.101348471_101348472insTCTGTCCTTGTACC GRCh38
NC_000023.10:g.100603459_100603460insTCTGTCCTTGTACC , CM000685.1:g.100603459_100603460insTCTGTCCTTGTACC GRCh37
NC_000023.9:g.100490115_100490116insTCTGTCCTTGTACC NCBI36
NG_009616.1:g.42755_42756insTACAAGGACAGAGG , LRG_128:g.42755_42756insTACAAGGACAGAGG
NG_011734.1:g.5500_5501insTACAAGGACAGAGG

Transcript Alleles

HGVS Amino-acid change
ENST00000372902.4:c.132+63_132+64insTACAAGGACAGAGG MANE Select ENSP00000361993.3:n.132+63_132+64insTACAA...
ENST00000644112.2:c.132+63_132+64insTACAAGGACAGAGG ENSP00000494385.1:n.132+63_132+64insTACAA...
ENST00000645279.1:c.132+63_132+64insTACAAGGACAGAGG ENSP00000494239.1:n.132+63_132+64insTACAA...
ENST00000647480.1:n.106_107insTACAAGGACAGAGG
ENST00000372902.3:c.132+63_132+64insTACAAGGACAGAGG ENSP00000361993.3:n.132+63_132+64insTACAA...
ENST00000480575.1:n.217+63_217+64insTACAAGGACAGAGG
NM_001145951.1:c.132+63_132+64insTACAAGGACAGAGG NP_001139423.1:n.132+63_132+64insTACAAGGA...
NM_004085.3:c.132+63_132+64insTACAAGGACAGAGG NP_004076.1:n.132+63_132+64insTACAAGGACAG...
NM_004085.4:c.132+63_132+64insTACAAGGACAGAGG MANE Select NP_004076.1:n.132+63_132+64insTACAAGGACAG...
NM_001145951.2:c.132+63_132+64insTACAAGGACAGAGG NP_001139423.1:n.132+63_132+64insTACAAGGA...
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